Linked Data
ClinVar Variation Id:
3039078
ClinVar RCV Id:
RCV003914420
gnomAD v4:
7-92510944-T-C
MyVariant Identifiers:
chr7:g.92140258T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92510944T>C , CM000669.2:g.92510944T>C | GRCh38 |
| NC_000007.13:g.92140258T>C , CM000669.1:g.92140258T>C | GRCh37 |
| NC_000007.12:g.91978194T>C | NCBI36 |
| NG_008341.1:g.22588A>G | |
| NG_008341.2:g.22588A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1587A>G MANE Select | ENSP00000248633.4:p.Gln529= | |
| ENST00000248633.8:c.1587A>G | ENSP00000248633.4:p.Gln529= | |
| ENST00000422866.1:c.488A>G | ||
| ENST00000428214.5:c.1587A>G | ENSP00000394413.1:p.Gln529= | |
| ENST00000438045.5:c.621A>G | ENSP00000410438.1:p.Gln207= | |
| ENST00000476923.1:n.348A>G | ||
| ENST00000484913.5:n.1626A>G | ||
| NM_000466.2:c.1587A>G | NP_000457.1:p.Gln529= | |
| NM_001282677.1:c.1587A>G | NP_001269606.1:p.Gln529= | |
| NM_001282678.1:c.963A>G | NP_001269607.1:p.Gln321= | |
| XM_005250433.3:c.-80A>G | XP_005250490.1:n.-80A>G | |
| XR_242246.3:n.1683A>G | ||
| XM_017012319.2:c.-80A>G | XP_016867808.1:n.-80A>G | |
| XR_001744808.2:n.697A>G | ||
| XR_242246.5:n.1634A>G | ||
| NM_000466.3:c.1587A>G MANE Select | NP_000457.1:p.Gln529= | |
| NM_001282677.2:c.1587A>G | NP_001269606.1:p.Gln529= | |
| NM_001282678.2:c.963A>G | NP_001269607.1:p.Gln321= |